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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DRC1
(Q337*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 21
+1 more
GPathogenic/Likely pathogenic
DRC1
(R39P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
GUncertain significance
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DRC1
Insertion
(intron variant)
Primary ciliary dyskinesia 21
+1 more
GBenign
DRC1
(R464H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1, LOC129933333
Deletion
Primary ciliary dyskinesia 21
GPathogenic
DRC1
(S659fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 21
GPathogenic
DRC1
(R694fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 21
+1 more
GUncertain significance
DRC1
(R375H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DRC1
(Q37fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 21
+2 more
GPathogenic/Likely pathogenic
DRC1
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 21
+1 more
GLikely pathogenic
DRC1
(T732fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 21
+2 more
GUncertain significance
DRC1
(T692S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+1 more
GConflicting classifications of pathogenicity
DRC1
Single nucleotide variant
(stop lost)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DRC1
(K638T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DRC1
(T331I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+2 more
GBenign/Likely benign
DRC1
(A356V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+2 more
GBenign
DRC1
(A473V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+3 more
GUncertain significance
DRC1
(W141G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+1 more
GUncertain significance
DRC1
(K357E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
+3 more
GBenign
DRC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign
DRC1
(W399R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GBenign
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 21
+2 more
GBenign/Likely benign
DRC1
(Q118*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 21
+3 more
GConflicting classifications of pathogenicity
DRC1
(K686*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 21
GPathogenic
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